Individual #00183082

ID_report PatC
Reference Labrijn-Marks et al, submitted
Remarks -
Gender -
Consanguinity -
Country Netherlands
Population -
Age/Death <00y02m14d (before 2 months, 14 days)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases GSD
Owner name Marianne Hoogeveen-Westerveld


Phenotypes

storage disease, glycogen (GSD) (GSD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000143838 10w-died with cardiorespiratory arrest glycogen storage disease GSD-2 Familial, autosomal recessive - 00y01m14d - - - Marianne Hoogeveen-Westerveld



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184042 DNA SEQ Blood/Fibroblast - GAA 2 Marianne Hoogeveen-Westerveld



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
17 Maternal (confirmed) g.78081665G>A - - - GAA_000065 pathogenic potential less severe Labrijn-Marks et al, submitted - - Germline - - - 0 - Marianne Hoogeveen-Westerveld GAA +/+? - - - - - 5 NM_000152.3:c.925G>A - pathogenic, recessive (reduced severity) r.(?) p.(Gly309Arg) - - - - - - - - - - - - - - - - - - - - - - -
17 Paternal (inferred) g.78081665G>A - - - GAA_000065 pathogenic potential less severe; maternal segmental isodisomy chromosome 17 Labrijn-Marks et al, submitted - - Uniparental disomy, maternal allele - - - 0 - Marianne Hoogeveen-Westerveld GAA +/+? - - - - - 5 NM_000152.3:c.925G>A - pathogenic, recessive (reduced severity) r.(?) p.(Gly309Arg) - - - - - - - - - - - - - - - - - - - - - - -
Legend